TLDR New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
The document reviews Birt–Hogg–Dubé syndrome (BHD), a rare genetic disorder that leads to the development of benign hair follicle tumors known as fibrofolliculomas, pneumothorax, and kidney cancer, with lung and kidney cysts believed to be responsible for the latter two conditions. The gene responsible for BHD encodes a protein called folliculin, whose function remains largely unknown, but recent evidence suggests it plays a significant role in cellular signaling, including hypoxia responses and growth pathways. Due to the unclear role of folliculin, the symptoms of BHD are not well understood, and treatments are still empirical. The authors of the review discuss the latest findings and their potential implications for understanding the pathogenesis and treatment of the skin manifestations associated with BHD.
36 citations,
March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
